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Adams-Oliver syndrome

Also known as: Congenital Scalp Defects with Distal Limb Reduction Anomalies, Absence Defect of Limbs, Scalp and Skull

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Background

Since its first description in 1945, Adams-Oliver syndrome (AOS) remains a rare condition with some 130 cases reported in the medical literature to date. It is characterised by a combination of defects mainly in the formation of the scalp and/or the underlying cranium (skull) with associated abnormalities of limb development.

Credits

Medical text written July 2010 by Miss Ruth O'Sullivan, Specialty Registrar in Trauma and Orthopaedics, Royal infirmary of Edinburgh, Edinburgh, UK.

What are the symptoms?

Symptoms vary amongst individuals with the syndrome and ranges from cutis aplasia congenita (mild skin defects of the scalp appearing in isolation) to large defects of the scalp with underlying bony defects causing exposure of cranial contents (the inside of the skull) as well as other organ involvement. Limb involvement may result in shortening of limbs causing an overall reduction in height for the affected individual. In very severe cases, limbs may be absent. Other abnormalities in addition to scalp and limb involvement have been described and include:

  • vascular abnormalities, including multisystem arteriovenous malformation (a condition where there are abnormal connections between veins and arteries affecting multiple systems in the body)
  • craniofacial abnormalities, such as cleft lip and/or palate
  • learning disability
  • supernumerary nipples (where there are extra nipples present)
  • wooly hair
  • multiple skin tags.

These wide-ranging symptoms are thought in part to be related to the mode of inheritance, with a milder form of the syndrome associated with an autosomal recessive inheritance.

What are the causes?

The exact cause of the syndrome remains unknown. There are various theories that all propose an abnormality of vascular development during embryonic development is responsible for the components of the syndrome.

A team of researchers within the genetics department at Guys hospital are undertaking a study to try to find the genetic cause for Adam-Oliver Syndrome. If you, or a member of your family, are affected by Adams-Oliver Syndrome and woudl like more information about becoming involved in the study please email:laura.2.southgate@kcl.ac.uk or write to Dr Laura Southgate, Trembath Laboratory, Department of Medical and Molecular Genetics, 9th Floor, Guys Tower, Guys  Hospital, London SE1 9RT. This study has full ethical approval.

How is it diagnosed?

AOS is diagnosed by the presence of features typically associated with the syndrome. To date, no genetic tests are available to diagnose AOS.

Proposed by Snape et al in 2009, the lists below can be used to provide families with a diagnosis. The presence of two major features is thought to be diagnostic (meaning the syndrome is almost certainly present), whereas one major feature in addition to one minor feature is highly suggestive of AOS (meaning that it is likely to be present).

Major

  • Terminal transverse limb defects.
  • Cutis aplasia congenita.
  • Family history of AOS.

Minor

  • Cutis marmarata (mottling of skin).
  • Congenital heart defects.
  • Vascular abnormality (eg arteriovenous malformation).

How is it treated?

Treatment is symptomatic (designed to address the symptoms of the condition rather than the cause) and is largely dependent on the severity of the symptoms of the syndrome. Simple skin defects can be left to heal by themselves, but surgery may be required to manage larger defects or where serious vascular malformations are identified. Overall the prognosis for children with AOS is excellent.

Inheritance patterns and prenatal diagnosis

Inheritance patterns

First thought to be solely an autosomal dominant condition, but other modes of inheritance have since been recognised including an autosomal recessive manner of transmission, which results in milder symptoms. It is possible for a child to be born with AOS without either the mother or father being affected and this is known as a sporadic mutation.

Prenatal diagnosis
To date no prenatal diagnosis is available.

Is there support?

Adams Oliver

Adams-Oliver Syndrome Support Group

www.aosupport.org

The Group is a small contact group, established in 1993. It offers information about this condition and moral support through shared experiences via an online forum. The Group is in touch with families in the UK, Canada, Europe, South America and the Middle East.

Group details last confirmed January 2013.

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